Cri du Chat Syndrome
.Symptoms/Diagnosis. The symptoms of Cri du Chat are mostly recognized in the physical development and features of someone affected by Cri du Chat. The symptom that is recognized first in a new-born with this disorder is the high-pitched, or cat-like cry. Other symptoms include a smaller head and jaw as well as wide set eyes that are slanted downwards. Also the position of their ears may either be low set or abnormally set. There may also be skin tags just in front of the ears. Other physical symptoms are partial webbing or fusing of fingers and toes and a single line in the palm of the hands. Someone who is affected by Cri du Chat will have a low birth weight and will grow slower than average. In addition, their motor skills may either develop slowly or won't develop completely. The most severe symptom of Cri du Chat is mental retardation and may have trouble communicating using language. A person can usually be diagnosed with Cri du Chat when they are a newborn. A doctor is able to hear and identify the cat-like cry of the baby and can usually use that symptom to diagnose Cri du Chat. Additionally they can analyze the chromosomes and see if there is a missing part on the short arm of chromosome 5. If the deletion is not seen than a FISH test may need to be performed. .Prognosis. Usually, mental retardation occurs. About half of the children with this syndrom learn enough communication skills to comminucate with others. Most of the time, the cat-like cry becomes less noticable. Although due to the retardation, complications such as the inability to care for themselves, and to function in society may occur. .Frequency. Cri du Chat is a very rare disorder that affects 1 in every 37,000-50,000 births. Cri du Chat is very rare because it's caused by a deletion in chromosome 5 that happens randomly. .Method of Inheritance. Cri du Chat syndrome is caused in two ways. The most common way is not hereditary but sporadic, meaning it happens randomly. 80%-85% of the time Cri du Chat is caused due to a deletion mutation in the 5th chromosome. This usually occurs in the egg or sperm, or early fetal development and is not hereditary. Some scientists believe that the severity of intellectual disability depends on how large or small the deletion in the chromosome is. If Cri du Chat is caused by the deletion than it is very unlikely for the parents to have another child with this syndrome. The other 10%-15% are due to one parent having a translocation in chromosome 5. The parent would be unaffected but as genes are passed on to the next generation the child inherits extra or missing genetic material. .Possible Treatments. There are no treatments for Cri du Chat syndrome, although the mental retardation is something to be addressed. It is recomended that parents that have children with this syndrome should get karyotype test to see if one parent has a rearrangement of chromosome 5. Also, it is advised that parents go to counseling. .Citations/References. http://health.nytimes.com/health/guides/disease/cri-du-chat-syndrome/overview.html http://www.criduchat.org.uk/ http://www.genetic-diseases.net/wp-content/uploads/2008/01/criduchat1.jpg http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm http://fs6.depauw.edu:50080/~cfornari/DISGEN/CriDuChat%20Website/Mode%20of%20Inheritance.htm